Vitamin A responsive night blindness in Dent's disease

被引：21

作者：

Sethi, Sidharth Kumar ^{[1
]}

Ludwig, Michael ^{[2
]}

Kabra, Madhulika ^{[3
]}

Hari, Pankaj ^{[1
]}

Bagga, Arvind ^{[1
]}

机构：

[1] All India Inst Med Sci, Dept Pediat, Div Pediat Nephrol, New Delhi 110029, India

[2] Univ Bonn, Dept Clin Chem & Pharmacol, D-5300 Bonn, Germany

[3] All India Inst Med Sci, Dept Pediat, Genet Unit, New Delhi 110029, India

来源：

PEDIATRIC NEPHROLOGY | 2009年 / 24卷 / 09期

关键词：

CLCN5; Hypercalciuria; Hypophosphataemic rickets; Nyctalopia; Night blindness; Dent's disease; RENAL CHLORIDE CHANNEL; MOLECULAR-WEIGHT PROTEINURIA; GENETIC-HETEROGENEITY; KIDNEY-STONES; MUTATIONS; CLCN5; NEPHROCALCINOSIS; NEPHROLITHIASIS; FAILURE; CLC-5;

D O I：

10.1007/s00467-009-1198-6

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Dent's disease is an X-linked renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrocalcinosis or nephrolithiasis. The disease is caused by mutations in a renal chloride channel gene, CLCN5. We report on three boys, of Indian origin, with Dent's disease that presented at an early age (1-4 years), with polyuria, polydipsia, salt craving, recurrent vitamin A-responsive night blindness, hypophosphataemic rickets, hypercalciuria and low molecular weight proteinuria. All these patients were found to have novel mutations in the CLCN5 gene.

引用

页码：1765 / 1770

页数：6

共 20 条

[1]

Bolino A., 1993, European Journal of Human Genetics, V1, P269

[2] Phenotype and genotype of Dent's disease in three Korean boys [J].

Cheong, HI ;

Lee, JW ;

Zheng, SH ;

Lee, JH ;

Kang, JH ;

Kang, HG ;

Ha, IS ;

Lee, SJ ;

Choi, Y .

PEDIATRIC NEPHROLOGY, 2005, 20 (04) :455-459

[3] Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease [J].

Devuyst, O ;

Christie, PT ;

Courtoy, PJ ;

Beauwens, R ;

Thakker, RV .

HUMAN MOLECULAR GENETICS, 1999, 8 (02) :247-257

[4] CLONING AND CHARACTERIZATION OF CLCN5, THE HUMAN KIDNEY CHLORIDE CHANNEL GENE IMPLICATED IN DENT DISEASE (AN X-LINKED HEREDITARY NEPHROLITHIASIS) [J].

FISHER, SE ;

VANBAKEL, I ;

LLOYD, SE ;

PEARCE, SHS ;

THAKKER, RV ;

CRAIG, IW .

GENOMICS, 1995, 29 (03) :598-606

[5] X-LINKED RECESSIVE NEPHROLITHIASIS WITH RENAL-FAILURE [J].

FRYMOYER, PA ;

SCHEINMAN, SJ ;

DUNHAM, PB ;

JONES, DB ;

HUEBER, P ;

SCHROEDER, ET .

NEW ENGLAND JOURNAL OF MEDICINE, 1991, 325 (10) :681-686

[6] Evaluation of the Dade Behring Dimension RxL: integrated chemistry system-pediatric reference ranges [J].

Ghoshal, AK ;

Soldin, SJ .

CLINICA CHIMICA ACTA, 2003, 331 (1-2) :135-146

[7] Evidence for genetic heterogeneity in Dent's disease [J].

Hoopes, RR ;

Raja, KM ;

Koich, A ;

Hueber, P ;

Reid, R ;

Knohl, SJ ;

Scheinman, SJ .

KIDNEY INTERNATIONAL, 2004, 65 (05) :1615-1620

[8] Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease [J].

Igarashi, T ;

Günther, W ;

Sekine, T ;

Inatomi, J ;

Shiraga, H ;

Takahashi, S ;

Suzuki, J ;

Tsuru, N ;

Yanagihara, T ;

Shimazu, M ;

Jentsch, TJ ;

Thakker, RV .

KIDNEY INTERNATIONAL, 1998, 54 (06) :1850-1856

[9] The CLC chloride channel family [J].

Jentsch, TJ ;

Friedrich, T ;

Schriever, A ;

Yamada, H .

PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY, 1999, 437 (06) :783-795

[10] Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders [J].

Lloyd, SE ;

Gunther, W ;

Pearce, SHS ;

Thomson, A ;

Bianchi, ML ;

Bosio, M ;

Craig, IW ;

Fisher, SE ;

Scheinman, SJ ;

Wrong, O ;

Jentsch, TJ ;

Thakker, RV .

HUMAN MOLECULAR GENETICS, 1997, 6 (08) :1233-1239

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